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Gene-specific variant interpretation guidelines in GCK HNF1A, and HNF4A: update from the ClinGen monogenic diabetes expert panel
Title Gene-specific variant interpretation guidelines in GCK HNF1A, and HNF4A: update from the ClinGen monogenic diabetes expert panel Author Zhang H. Co-authors Maloney Kristin Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Saint-Martin Cecile Saliganan Sheila Cano Oscar Pakyz Ruth E. Letourneau Lisa Naylor Rochelle Murphy Rinki Kettunen Jarno Parikh Hemang Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Urano Fumihiko Richard Gabriele Molnes Janne Maston Glenn Bellanne-Chantelot Christine Colclough Kevin Jeng Linda J.B. Pollin Toni Source document ACMG American College of Medical Genetics and Genomics. p. 1-2. - San Antonio, Texas : ACMG, 2020 ; ACMG Annual Clinical Genetics Meeting Language eng - English Country US - United States of America URL URL link Document kind rozpis článkov z periodík (rzb) Category GHG - Works published on the internet Year 2020 
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rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2020
Number of the records: 1